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Disorders associated with systemic or local iron overload: from pathophysiology to clinical practice
Giada Sebastiani1, Kostas Pantopoulos
1Lady Davis Institute for Medical Research, Sir Mortimer B. Davis Jewish General Hospital, and Department of Medicine, McGill University, Montreal, Quebec, Canada.
Hepcidin regulates body iron in healthy individuals. Disruptions in iron metabolism cause anemias, iron overload, and neurodegenerative diseases, impacting overall health.
Area of Science:
- Biochemistry
- Physiology
- Pathology
Background:
- Iron metabolism is tightly regulated by hepcidin in healthy individuals.
- Dysregulation leads to anemias, iron overload (hemochromatosis), and cellular iron accumulation.
- Brain iron overload is linked to neurodegenerative disorders.
Purpose of the Study:
- To review the pathophysiology and clinical aspects of iron metabolism disorders.
- To cover a broad range of iron-related conditions, including anemias and iron overload.
- To discuss secondary iron overload conditions like transfusional siderosis and chronic liver disease complications.
Main Methods:
- Critical review of existing literature.
- Synthesis of pathophysiological mechanisms.
- Analysis of clinical manifestations and disease associations.
Main Results:
- Iron metabolism disorders encompass deficiencies, defective iron transport, and overload states.
- Hepcidin's role in systemic iron homeostasis is central to these conditions.
- Secondary iron overload can arise from treatments like blood transfusions or chronic diseases.
Conclusions:
- Understanding iron metabolism disorders is crucial for diagnosing and managing various anemias and overload conditions.
- Hepcidin dysregulation is a key factor in iron-related pathologies.
- This review provides a comprehensive overview of iron metabolism disorders, referencing 265 sources.
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